A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543314



Internal ID209527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:137359785..137359814hg38UCSC Ensembl
chr8:138372028..138372057hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019862
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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